Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (924 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
Congenital defects in the anus and the rectum often involving the urinary and genital tracts.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Malformation, Anorectal; Malformations, Anorectal; Anorectal Malformation; Anorectal Anomalies; Anomalies, Anorectal; Anomaly, Anorectal; Anorectal Anomaly; Anorectal Atresia.
Where it fits in the MeSH classification
- Broader topics
- Digestive System Abnormalities
Research landscape
PubMed indexes 1,306 records tagged with the MeSH heading “Anorectal Malformations” (counts retrieved 2026-10-29). 636 of them (48.7%) were published from 2020 onward, and the busiest period so far is 2020 onward with 636 records.
Reviews account for 180 records (13.8%) and meta-analyses for 13. Randomized controlled trials number 11 (0.8%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 102 |
| 2000-2009 | 1 |
| 2010-2019 | 567 |
| 2020 onward | 636 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 180 | 13.8% |
| Meta-analyses | 13 | 1.0% |
| Randomized controlled trials | 11 | 0.8% |
Method: PubMed query "Anorectal Malformations"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
Laparoscopically Assisted Anorectal Pull-Through versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations: A Systematic Review and Meta-Analysis [1]
Abstract reading summary — source excerpts
- Opening excerpt
- ObjectiveAnorectal malformations (ARMs) are one of the commonest anomalies in neonates.
- Closing excerpt
- However, the quality of evidence was very low to moderate.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (293 words)
ObjectiveAnorectal malformations (ARMs) are one of the commonest anomalies in neonates. Both laparoscopically assisted anorectal pull-through (LAARP) and posterior sagittal anorectoplasty (PSARP) can be used for the treatment of ARMs. The aim of this systematic review and meta-analysis is to compare these two approaches in terms of intraoperative and postoperative outcomes.MethodsMEDLINE, Embase, Web of Science and the Cochrane Library were searched from 2000 to August 2016. Both randomized and non-randomized studies, assessing LAARP and PSARP in pediatric patients with high/intermediate ARMs, were included. The primary outcome measures were operative time, length of hospital stay and total postoperative complications. The second outcome measures were rectal prolapse, anal stenosis, wound infection/dehiscence, anorectal manometry, Kelly's clinical score, and Krickenbeck classification. The quality of the randomized and non-randomized studies was assessed using the Cochrane Collaboration's Risk of Bias tool and Newcastle-Ottawa scale (NOS) respectively. The quality of evidence was assessed by GRADEpro.ResultsFrom 332 retrieved articles, 1, 1, and 8 of randomized control, prospective and retrospective studies, respectively, met the inclusion criteria. The randomized clinical trial was judged to be of low risk of bias, and the nine cohort studies were of moderate to high quality. 191 and 169 pediatric participants had undergone LAARP and PSARP, respectively. Shorter hospital stays, less wound infection/dehiscence, higher anal canal resting pressure, and a lower incidence of grade 2 or 3 constipation were obtained after LAARP compared with PSARP group values. Besides, the LAARP group had marginally less total postoperative complications. However, the result of operative time was inconclusive; meanwhile, there was no significant difference in rectal prolapse, anal stenosis, anorectal manometry, Kelly's clinical score and Krickenbeck classification.ConclusionFor pediatric patients with high/intermediate anorectal malformations, LAARP is a better option compared with PSARP. However, the quality of evidence was very low to moderate.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28099464 · DOI · PMC5242536
High Prenatal Exposure to Bisphenol A Reduces Anogenital Distance in Healthy Male Newborns [2]
Abstract reading summary — source excerpts
- Opening excerpt
- ObjectiveTo estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns.
- Closing excerpt
- However, this result should be interpreted with caution since there were no significant external genital abnormalities in our study group.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (178 words)
ObjectiveTo estimate the relationship between cord blood bisphenol A (BPA) levels and anogenital measurements in healthy newborns.MethodsPregnancy and birth history, together with body mass and length data, anogenital measurements, penile measurements and cord blood samples were obtained from healthy newborns. Cord blood concentration of BPA was analyzed by sandwich enzyme-linked immunosorbent assays kit.ResultsAmong 130 healthy newborns (72 boys, 58 girls), mean anopenile distance was 45.2±6 mm and anoscrotal distance was 21.9±5.4 mm in boys; mean anoclitoral distance was 33.8±6.6 mm and mean anofourchette distance was 12.2±4.9 mm in girls. Mean cord blood BPA level was 4.75±2.18 ng/mL. 90th percentile value for cord blood BPA was 8.26 ng/mL and the analysis showed a statistically significant correlation between anoscrotal distance and cord blood BPA levels above the 90th percentile (p=0.047) in boys. The changes in anogenital distance in girls were not statistically significant.ConclusionWe showed a significant association between high cord blood BPA levels and shortened anoscrotal distance in male newborns. However, this result should be interpreted with caution since there were no significant external genital abnormalities in our study group.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 28825590 · DOI · PMC5838369
Prevalence and mortality among children with anorectal malformation: A multi-country analysis [3]
Abstract reading summary — source excerpts
- Opening excerpt
- PurposeWe examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014.
- Closing excerpt
- Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (232 words)
PurposeWe examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 36401554 · DOI · PMC9898144
Bowel and bladder outcomes in patients with anorectal malformations and sacral agenesis: a retrospective cohort study [4]
Abstract reading summary — source excerpts
- Opening excerpt
- PurposePatients with anorectal malformation (ARM) and associated sacral agenesis (SA) are at increased risk of long-term bowel and bladder dysfunction, but outcome data to guide early counselling and follow-up remain limited.
- Closing excerpt
- These findings support anticipatory counselling and multidisciplinary follow-up.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (221 words)
PurposePatients with anorectal malformation (ARM) and associated sacral agenesis (SA) are at increased risk of long-term bowel and bladder dysfunction, but outcome data to guide early counselling and follow-up remain limited. We aimed to evaluate bowel and bladder outcomes in patients with concurrent ARM and SA, with a focus on transanal irrigation (TAI) and clean intermittent catheterization (CIC) use.MethodsIn this retrospective single-center cohort study, all patients with ARM and SA born between January 2000 and January 2024 were included. SA was diagnosed radiologically and classified using Pang's classification. The primary outcome was TAI and/or CIC use. Secondary outcomes included fecal incontinence (≥ 4 years), urinary incontinence (≥ 5 years), and neurogenic bladder.ResultsIn total, 41 patients were included, with a median age at follow-up of 11.2 years. Of 33 patients ≥ 4 years, 22 (66.7%) used TAI during follow-up, primarily for fecal incontinence. Fecal incontinence was present in 26.3% of current TAI users versus 71.4% of non-users (p = .015). CIC was initiated in 18 of 41 patients (43.9%), mostly due to urodynamically confirmed neurogenic bladder. TAI and CIC use were associated with ARM complexity, but not with radiological SA severity.ConclusionPatients with concurrent ARM and SA represent a high-risk group for long-term bowel and bladder dysfunction, and many require structured bowel and/or bladder management. These findings support anticipatory counselling and multidisciplinary follow-up.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42207205 · DOI · PMC13219063
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review [5]
- Research article Psychosocial factors affecting quality of life in patients with anorectal malformation and Hirschsprung disease-a qualitative systematic review [6]
- Research article Long-term bowel function, quality of life and sexual function in patients with anorectal malformations treated during the PSARP era [7]
- Research article Challenges in Transition of Care for Patients With Anorectal Malformations: A Systematic Review and Recommendations for Comprehensive Care [8]
- Research article General complications after surgery for anorectal malformations [9]
- Research article Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium [10]
References
- Han Y, Xia Z, Guo S, Yu X, Li Z. Laparoscopically Assisted Anorectal Pull-Through versus Posterior Sagittal Anorectoplasty for High and Intermediate Anorectal Malformations: A Systematic Review and Meta-Analysis. . 2017. PMID 28099464 · DOI · PMC5242536
- Mammadov E, Uncu M, Dalkan C. High Prenatal Exposure to Bisphenol A Reduces Anogenital Distance in Healthy Male Newborns. . 2018. PMID 28825590 · DOI · PMC5838369
- Kancherla V, Sundar M, Tandaki L, Lux A, Bakker MK, Bergman JE, et al.. Prevalence and mortality among children with anorectal malformation: A multi-country analysis. . 2023. PMID 36401554 · DOI · PMC9898144
- Theeuwes JN, de Beaufort CMC, McDonald CJ, Bakker DP, van Schuppen J, Kuijper CF, et al.. Bowel and bladder outcomes in patients with anorectal malformations and sacral agenesis: a retrospective cohort study. . 2026. PMID 42207205 · DOI · PMC13219063
- Rigueros Springford L, Connor MJ, Jones K, Kapetanakis VV, Giuliani S. Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review. Dis Colon Rectum. 2016. PMID 27145316 · DOI
- Svetanoff WJ, Kapalu CL, Lopez JJ, Fraser JA, Briggs KB, Rentea RM. Psychosocial factors affecting quality of life in patients with anorectal malformation and Hirschsprung disease-a qualitative systematic review. J Pediatr Surg. 2022. PMID 34127258 · DOI
- Kyrklund K, Pakarinen MP, Rintala RJ. Long-term bowel function, quality of life and sexual function in patients with anorectal malformations treated during the PSARP era. Semin Pediatr Surg. 2017. PMID 29110831 · DOI
- Cairo SB, Gasior A, Rollins MD, Rothstein DH, Delivery of Surgical Care Committee of the American Academy of Pediatrics Section on Surgery. Challenges in Transition of Care for Patients With Anorectal Malformations: A Systematic Review and Recommendations for Comprehensive Care. Dis Colon Rectum. 2018. PMID 29420431 · DOI
- Divarci E, Ergun O. General complications after surgery for anorectal malformations. Pediatr Surg Int. 2020. PMID 32086570 · DOI
- Giuliani S, Grano C, Aminoff D, Schwarzer N, Van De Vorle M, Cretolle C, et al.. Transition of care in patients with anorectal malformations: Consensus by the ARM-net consortium. J Pediatr Surg. 2017. PMID 28688794 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.